Strengthening Family Ties
Affected by Genetic Disease
By Amy M. Chesire, LCSW-R, MSG
Ernest Hemingway wrote in A Farewell to Arms, “The world breaks everyone and afterward many are strong at the broken places.”
I think of these words often in my work with patients and families affected by Huntington’s disease. This disease was initially described by George Huntington, MD, in the late 1870s as “unstable and whimsical as the disease may be, in this it is firm, it never skips a generation to again manifest itself in another; once having yielded its claims, it never regains them.” Huntington’s words still ring true today, and the impact of an inherited disorder often can feel like a ticking time bomb for individuals with the disease and their families. But more than 100 years after Huntington’s statement, we have made some major advancements to help keep clients’ resilience and hope alive.
Family relationships take center stage in caring for a patient with a genetic disease such as Huntington’s. Social workers can play a key role in addressing the generational impact of the disease by working with the family as a whole as well as with the individual with Huntington’s. Our ability as social workers to engage and support families to navigate a life with the disease has grown in three primary ways since Huntington’s initial description. First, we have reached a richer clinical understanding of the disease itself. Second, there is a greater awareness of the clinical implications that an inherited disorder can place on a family. Last, we have found new ways to help families get “unstuck” and move toward generational change.
About Huntington’s Disease
Huntington’s is an inherited neurological disorder typically with a late onset and a long period of progression characterized by changes in motor function, cognitive deterioration, and mood. Think of it like a three-legged stool. Sometimes a person with Huntington’s can have problems with one leg of the stool—for example, chorea or extra movements. (Chorea is the Greek word for dance, and the extra movements associated with Huntington’s can look quite dancelike.)
Typically, the movements are not painful and initially may not cause much difficulty for a person with Huntington’s. Over the course of the long journey, this may change and when movements start to negatively impact daily life, then treatment options to help lessen or suppress chorea are important for patients to consider. The good news is there are medications available that can do this. Often individuals with this disease are less aware of their movements than those around them, in particular caregivers and other family members.
Other times, a person with Huntington’s may have problems with another leg of the stool: challenges with thinking. There are few treatment options for this problem, yet it may be one of the most challenging areas for both a person with Huntington’s and those around them. The cognitive changes are different than those of other neurodegenerative diseases, such as Alzheimer’s. In particular, the anosognosia or unawareness of symptoms is very specific to Huntington’s and often can create tension within a family.
This is not denial, which is a psychological state of mind. The anosognosia appears to be rooted in the biological processes and changes in the brain associated with Huntington’s.
The last leg of this stool involves the assorted mood and psychiatric challenges that Huntington’s can unleash. The most striking and treatable is depression and the often-accompanying apathy or irritability. Though we don’t have an effective treatment to stop the progression or prevent symptom onset, by aggressively treating depression and/or mood disturbance through medication, counseling, exercise, and other modalities, it is possible to manage daily life and enhance quality of life.
Another particularly challenging loss, especially for marriages and families, is the affected person’s ability to demonstrate empathy toward others. This may be another deficit rooted in the biological changes in cognition and the rigid thinking that sometimes characterizes this disease. Families sometimes feel like the person with Huntington’s feels the whole world revolves around that individual. I use the saying “It looks like your disease is getting in your way” to try get the person with Huntington’s to move forward.
Genetics and Family Dynamics
Huntington’s disease is an autosomal dominant trait, which means that every biological child of a single gene carrier, independent of sex, will have a 50% chance of inheriting the gene and therefore eventually developing the disease. It is like flipping a coin for each biological child—heads you have the gene or tails you don’t have the gene. If you didn’t inherit the gene, you could never pass it onto future generations. If you did inherit it, at some point in your lifetime, you will start to show symptoms of the disease.
Predictive genetic testing for Huntington’s disease was introduced in 1993. As we approach 20 years of having a clinical process available for a person who is at-risk for this disease to find out whether he or she has this inherited disease, it is important to be aware that the majority of individuals who are at risk have opted not to undergo this process. As I counsel individuals about whether to undergo this process, I am often asked if I was in their shoes, would I want to know whether I have the gene, especially knowing that there is no effective treatment is currently available.
It is a difficult question to be asked and even harder to answer. Genetic testing is an individual decision, and there is no right or wrong path to take. Often the reason that patients choose the testing process is a new family situation—for example getting married or wanting to start a family. A second common reason is the “not knowing” starts to outweigh the “knowing.” Some argue that even a diagnosis of Huntington’s disease is less stressful than the uncertainty of living with a 50% risk status.
For social workers working with patients with or affected by genetic disease such as Huntington’s disease, there is additional complexity and weight that the inherited nature of this disease can place on a family. I frequently advise other health professionals working with individuals with Huntington’s or their family members that there is often an “elephant in the room”: the genetics of Huntington’s.
The dynamics in the Huntington’s-affected family is very different from one not affected. The presence of Huntington’s may be associated with several types of losses experienced by the family: loss of personality and physical changes of the affected family member, loss of the usual family roles and structure, and potential loss through placement in a nursing home and eventual death. The two most difficult challenges reported by affected families are the mental deterioration of the ill individual and fear of having passed the gene to their children.
Helping Families Find a Way Forward
Working with individuals with and families affected by inherited disease is a great teacher. Along with my families dealing with Huntington’s disease, I continue to try to be the good, attentive student. During the early phases of the journey, I use the visual of drawing a large circle on a sheet of paper and thinking of that as a person’s current life. When the person has just been told he or she has the Huntington’s gene, that whole circle may be filled with “Huntington’s disease.” My goal and hope over time is to help an individual and his or her family move forward so Huntington’s becomes a smaller piece of their lives.
There are no cookbook approaches to working with these families, and what works today may fail miserably tomorrow. But you must keep trying.
I admire my Huntington’s patients who have the courage to get out of bed each day and move forward. I have never lost sight of the time-tested social work tenets of good listening and staying with your patient. I don’t want to fall behind, and I certainly don’t want to get too far ahead of them. It is often in the storytelling that I can find the best path to help a person who has just been diagnosed with Huntington’s or tested positive for the gene help chart his or her new life course.
The role of secrecy and shame that particularly has impacted previous generations of Huntington’s families appears to be changing. Through my own clinic practice and work with adolescents and young adults who have a parent with or are affected by Huntington’s, this new cohort seems to view medical technology, information sharing, and digital/social media with a different lens than their parents’ generation. Instead of asking, ‘“Why would you have genetic testing done?” they ask instead, “Why wouldn’t you?” and that forces clinicians to respond differently.
I remain hopeful while many hundreds of my research colleagues worldwide search, whether in rats, mice, or monkeys, to find a cure or treatment for Huntington’s disease or conduct clinical drug trials to find a treatment. There are so many of us in the trenches trying to help families affected by this HD and all other genetic disorders not lose sight of the here and now and find the joy in the present.
— Amy M. Chesire, LCSW-R, MSG, is a clinical social worker and clinical researcher at the Huntington’s Disease Society of America, Center of Excellence at the University of Rochester.